- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: PCS. (PMID:17701898)
- Multiple joint contractures (HP:0002828). Evidence: IEA. (OMIM:611369)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:17701898)
- Arthrogryposis multiplex congenita (HP:0002804): Multiple congenital contractures in different body areas. Evidence: PCS. (PMID:17701898)
- Respiratory insufficiency (HP:0002093). Evidence: PCS. (PMID:17701898)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: PCS. (PMID:17701898)
These phenotypes are associated with the disease lethal congenital contracture syndrome 3 (OMIM:611369).